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Congenital hypoplasia of adrenal gland

Known as: Congenital Adrenal Gland Hypoplasia, AHC, ADRENAL HYPOPLASIA, CONGENITAL 
A rare genetic disorder that affects the adrenal gland. It usually presents in infancy with signs and symptoms of adrenal insufficiency. If it is not… 
National Institutes of Health

Related topics

Related topics

22 relations
Abdominal CavityAddison DiseaseAdrenal GlandsAdrenal gland hypofunction

Broader (3)

Congenital AbnormalityCongenital DisordersHypoplasia

Narrower (1)

X-linked adrenal hypoplasia congenita

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2010
Highly Cited
2010
Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults.
Alternating hemiplegia of childhood is a neurological disorder characterized by episodes of hemiplegia, various non-epileptic… 
Review
2009
Review
2009
Alternating Hemiplegia of Childhood: Early Characteristics and Evolution of a Neurodevelopmental Syndrome
OBJECTIVES. Alternating hemiplegia of childhood is a predominantly sporadic neurodevelopmental syndrome of uncertain etiology. In… 
Highly Cited
2004
Highly Cited
2004
Effect of implant design on survival and success rates of titanium oral implants: a 10-year prospective cohort study of the ITI Dental Implant System.
AIM The aim of this 10-year study (observation time 8-12 years, mean: 10 years) was to compare the survival rates, success rates… 
Review
2001
Review
2001
Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita
Adrenal hypoplasia congenita (AHC) causes primary adrenal insufficiency due to the failure of development of the adrenal cortex… 
Highly Cited
2000
Highly Cited
2000
Marine organic geochemistry of the Eastern Mediterranean: 1. Aliphatic and polyaromatic hydrocarbons in Cretan Sea surficial sediments
Highly Cited
2000
Highly Cited
2000
A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism.
Mutations in the DAX1 gene cause X-linked adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HHG). In affected… 
Highly Cited
1998
Highly Cited
1998
Nuclear Receptor DAX-1 Recruits Nuclear Receptor Corepressor N-CoR to Steroidogenic Factor 1
ABSTRACT The orphan nuclear receptor steroidogenic factor 1 (SF-1) is a critical developmental regulator in the urogenital ridge… 
Highly Cited
1997
Highly Cited
1997
DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita
X-linked adrenal hypoplasia congenita (AHC) with hypogonadotropic hypogonadism was recently shown to be caused by mutations in a… 
Highly Cited
1996
Highly Cited
1996
Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production.
Adrenal hypoplasia congenita (AHC) is an X-linked disorder that typically presents with adrenal insufficiency during infancy… 
Highly Cited
1995
Highly Cited
1995
Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis.
DAX-1, an orphan member of the nuclear hormone receptor superfamily, is responsible for X-linked adrenal hypoplasia congenita… 
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